Neuropediatrics 2002; 33(5): 232-238
DOI: 10.1055/s-2002-36743
Rapid Article

Georg Thieme Verlag Stuttgart · New York

Congenital Creatine Transporter Deficiency

T. J. deGrauw 1 , 4 , G. S. Salomons 5 , K. M. Cecil 2 , 4 , G. Chuck 1 , A. Newmeyer 3 , M. B. Schapiro 1 , 3 , 4 , C. Jakobs 5
  • 1Division of Neurology, Cincinnati Children's Hospital Medical Center, Cincinnati, Ohio, USA
  • 2Division of Radiology, Cincinnati Children's Hospital Medical Center, Cincinnati, Ohio, USA
  • 3Division of Developmental Disabilities, Cincinnati Children's Hospital Medical Center, Cincinnati, Ohio, USA
  • 4College of Medicine, University of Cincinnati, Cincinnati, Ohio, USA
  • 5Department of Clinical Chemistry, VU University Medical Center, Amsterdam, The Netherlands
Further Information

Publication History

Received: 16 August 2002

Accepted after Revision: 22 August 2002

Publication Date:
21 January 2003 (online)



Two inborn errors of metabolism of creatine synthesis as well as the X-linked creatine transporter (SLC6 A8) deficiency have been recognized. This report describes the features of five identified male patients and their female relatives who are carriers of the X-linked creatine transporter deficiency syndrome.


Proton MR spectroscopy was used to recognize creatine deficiency in the patients. Molecular analysis of the SLC6A8 gene was performed, confirming the diagnosis of homozygous males and heterozygous females.


We describe four families from a metropolitan area in the U. S. with X-linked creatine transporter deficiency. All affected males present with developmental delay and severe developmental language impairment. Proton MR spectroscopy shows significantly depressed to essentially absent creatine and phosphocreatine in the male patients. Nonsense mutations and amino acid deletions were found in the SLC6A8 gene in the affected families.


Creatine transporter deficiency may be a more common X-linked genetic disorder than originally presumed. The affected males exhibit mental retardation with severe expressive language impairment.


M. D., Ph. D. Ton J. deGrauw

Cincinnati Children's Hospital
Division of Neurology

3333 Burnet Avenue

Cincinnati, OH 45229 - 3039